ECE2023 Poster Presentations Thyroid (163 abstracts)
Congenital Hypothyroidism and Thyroid dyshormonogenesis: Clinical features and genetic findings
Samir Mkaouer 1 , Faten Haj Kacem Akid 1 , Younes Ayadi 1 , Wafa Belabed 1 , Rihab Khochtali 1 , Bougacha Noura 2 , Chaaben Rim 3 , Dhoha Ben Salah 1 & Mohamed Abid 1
1Hedi Chaker Hospital, Endocrinology Departement, Sfax, Tunisia; 2Faculty of Sciences of Sfax, Genetic Department, Sfax, Tunisia; 3Sfax Faculty of Medicine, Human Molecular and Genetic Laboratory, Sfax, Tunisia
Introduction: Thyroid dyshormonogenesis represents 15% of congenital hypothyroidism. It is a genetic disorder due to a trouble of Thyroid hormones synthesis. it implies many factors involved in this process mainly TPO Enzyme and NIS channel.
Methods: We conducted a prospective study including 17 patients with Congenital Hypothyroidism belonging to 4 consanguine multigenerational Tunisian families. The thyroid dyshormonogenesis was diagnosed based on clinical, biological and imaging exams. We assessed the mean age at diagnosis, clinical phenotype, hormonal and thyroid Autoantibodies, complications and the mean follow up duration. Meanwhile, we performed Audiometry exam to detect neurosensorial hearing defects.
Results: Our study included 17 patients with a sex ratio of 1,83 in favor of male sex. The mean age of diagnosis was 7 years old [1 month-30 years]. The mean TSH at Diagnosis was 54,92mUI/ml [5,2 -300]. The mean follow-up time was 10,11 years [4 to 24 years]. bilateral perceptive deafness was detected in only Three patients. Intellectual disability was severe in four cases and moderate in two. Two patients had fascial dysmorphia. they presented an enlarged saddle nose with a wide anterior fontanel associated with umbilical hernia. Thyroid autoantibodies were negative for all patients except two patients having Subclinical hypothyroidism. Biomolecular study of TG, NIS, PDS was negative for all patients, However segregation with S92STPO gene mutation was detected in all of them with evidence of a founder effect of the Tunisian population.
Conclusions: Congenital hypothyroidism may lead to severe complications which may be preventable if the disease is diagnosed and treated early, therefore the importance of screening for this disease is heightened. The discover of the founder TPO gene mutation will allow to perform genotype correlation that will guide diagnosis and screening.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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